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Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.
[cystinuria]
Cystinuria
is
an
inherited
renal
and
intestinal
disease
characterized
by
defective
amino
acids
reabsorption
and
cystine
urolithiasis
.
It
is
unusually
associated
with
neurologic
symptoms
.
Mutations
in
two
genes
,
SLC
3
A
1
and
SLC
7
A
9
,
have
been
identified
in
cystinuric
patients
.
This
report
presents
a
13
-
yr
-old
boy
with
cystinuria
who
manifested
difficulty
in
walking
,
ataxia
,
and
mental
retardation
.
Somatosensory
evoked
potential
of
posterior
tibial
nerve
stimulation
showed
the
central
conduction
dysfunction
through
the
posterior
column
of
spinal
cord
.
He
was
diagnosed
non-
type
I
cystinuria
by
urinary
amino
acid
analysis
and
oral
cystine
loading
test
.
We
screened
him
and
his
family
for
gene
mutation
by
direct
sequencing
of
SLC
3
A
1
and
SLC
7
A
9
genes
.
In
this
patient
,
we
identified
new
missence
mutation
G
173
R
in
SLC
7
A
9
gene
.
Diseases
Validation
Diseases presenting
"ataxia"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
cadasil
canavan disease
cholangiocarcinoma
cystinuria
dystrophic epidermolysis bullosa
familial mediterranean fever
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
lamellar ichthyosis
locked-in syndrome
omenn syndrome
phenylketonuria
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
triple a syndrome
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated